Linked Data
dbSNP Id:
rs751514531
ExAC:
10:81317116 C / T
gnomAD v2:
10-81317116-C-T
gnomAD v3:
10-79557360-C-T
gnomAD v4:
10-79557360-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79557360C>T , CM000672.2:g.79557360C>T | GRCh38 |
| NC_000010.10:g.81317116C>T , CM000672.1:g.81317116C>T | GRCh37 |
| NG_013046.1:g.8048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372325.7:c.596G>A MANE Select | ENSP00000361400.2:p.Arg199His | |
| ENST00000372325.6:c.596G>A | ENSP00000361400.2:p.Arg199His | |
| ENST00000372327.9:c.596G>A | ENSP00000361402.5:p.Arg199His | |
| NM_001098668.2:c.596G>A | NP_001092138.1:p.Arg199His | |
| XM_005270128.2:c.647G>A | XP_005270185.1:p.Arg216His | |
| XM_005270131.3:c.596G>A | XP_005270188.1:p.Arg199His | |
| XM_005270132.3:c.596G>A | XP_005270189.1:p.Arg199His | |
| XM_011540124.1:c.596G>A | XP_011538426.1:p.Arg199His | |
| XM_011540125.1:c.596G>A | XP_011538427.1:p.Arg199His | |
| NM_001098668.3:c.596G>A | NP_001092138.1:p.Arg199His | |
| NM_001320813.1:c.596G>A | NP_001307742.1:p.Arg199His | |
| NM_001320814.1:c.626G>A | NP_001307743.1:p.Arg209His | |
| XM_005270128.3:c.647G>A | XP_005270185.1:p.Arg216His | |
| XM_017016608.1:c.596G>A | XP_016872097.1:p.Arg199His | |
| NM_001098668.4:c.596G>A MANE Select | NP_001092138.1:p.Arg199His | |
| NM_001320813.2:c.596G>A | NP_001307742.1:p.Arg199His |